Problems in the investigation of urine from patients suffering from primary hyperoxaluria type 1
β Scribed by Laube, N. ;Hoppe, B. ;Hesse, A.
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 250 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0300-5623
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We report here the identification of a duplication within the first intron of the gene encoding human alanine:glyoxylate aminotransferase (AGT); this duplication is closely linked to two point mutations associated with peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1 (
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome. Mutations in the gene for the thrombopoietin receptor MPL were defined as the molecular cause in CAMT patients. Extending our sequence analyses from eight to a total of now 23 CAMT patients we could